mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999925809166 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:202082459T>AN/A show variant in all transcripts IGV

HGNC symbol

CASP10

Ensembl transcript ID

ENST00000448480

Genbank transcript ID

NM_001206542

UniProt peptide

Q92851

alteration type

single base exchange

alteration region

intron

DNA changes

g.34856T>A

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs13006529

database	homozygous (A/A)	heterozygous	allele carriers
1000G	289	1070	1359
ExAC	10769	11229	21998

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.506	0
	-0.434	0
(flanking)	-1.305	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	34848	wt: 0.3478 / mu: 0.3575 (marginal change - not scored)	wt: ATTCCCTGTGCCCCTGGATGCACTTTCATTATAGCAGAGAG mu: ATTCCCTGTGCCCCTGGATGCACTTTCAATATAGCAGAGAG	atgc\|ACTT
Donor marginally increased	34860	wt: 0.9641 / mu: 0.9793 (marginal change - not scored)	wt: ATTATAGCAGAGAGT mu: AATATAGCAGAGAGT	TATA\|gcag
Donor increased	34855	wt: 0.59 / mu: 0.75	wt: CTTTCATTATAGCAG mu: CTTTCAATATAGCAG	TTCA\|ttat

distance from splice site

8174

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

no protein features affected

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

122 / 122

chromosome

strand

last intron/exon boundary

1408

theoretical NMD boundary in CDS

1236

length of CDS

1437

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

34856

chromosomal position
(for ins/del: last normal base / first normal base)

202082459

original gDNA sequence snippet

TGCCCCTGGATGCACTTTCATTATAGCAGAGAGTTTTTGTT

altered gDNA sequence snippet

TGCCCCTGGATGCACTTTCAATATAGCAGAGAGTTTTTGTT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MKSQGQHWYS SSDKNCKVSF REKLLIIDSN LGVQDVENLK FLCIGLVPNK KLEKSSSASD
VFEHLLAEDL LSEEDPFFLA ELLYIIRQKK LLQHLNCTKE EVERLLPTRQ RVSLFRNLLY
ELSEGIDSEN LKDMIFLLKD SLPKTEMTSL SFLAFLEKQG KIDEDNLTCL EDLCKTVVPK
LLRNIEKYKR EKAIQIVTPP VDKEAESYQG EEELVSQTDV KTFLEALPRA AVYRMNRNHR
GLCVIVNNHS FTSLKDRQGT HKDAEILSHV FQWLGFTVHI HNNVTKVEME MVLQKQKCNP
AHADGDCFVF CILTHGRFGA VYSSDEALIP IREIMSHFTA LQCPRLAEKP KLFFIQACQG
EEIQPSVSIE ADALNPEQAP TSLQDSIPAE ADFLLGLATV PGYVSFRHVE EGSWYIQSLC
NHLKKLVPRM LKFLEKTMEI RGRKRTVWGA KQISATSLPT AISAQTPRPP MRRWSSVS*

mutated AA sequence

N/A

speed

0.90 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project